EAHAD Factor VIII Variant Database
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Search Results: 3 unique variants retrieved


  c.5602T>C
p.(Ser1868Pro) (Legacy AA No.1849)
Variant Type:
Point
Domain:
A3
Sequence Context:
TCA > CCA
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5603C>G
p.(Ser1868*) (Legacy AA No.1849)
Variant Type:
Point
Domain:
A3
Sequence Context:
TCA > TGA
Variant Effect:
Nonsense
Location:
Exon 17
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 17
Individual Case Information : Show

  c.5603C>T
p.(Ser1868Leu) (Legacy AA No.1849)
Variant Type:
Point
Domain:
A3
Sequence Context:
TCA > TTA
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show